Find your genetic mutation type
The common mutation types are:
- Splice site
- In frame deletion \ addition
In this article we will explain which of the above is your mutation type.
What will you need ?
In order to find out what your exact mutation type is, you will need to have your genetic report at hand. It must contain the genetic mutation (variant) specification. It looks something like this:
We read it like this:
Gene: Contains the gene name, every gene has a name usually containing letters and numbers. In this example CHD2
Nucleotide: Contains the description of the mutation in the gene. In our example you can read it as follows - at location 3937 the letter C wax expected but it changed into T
Protein: Contains the implication of the mutation on the protein. In our example it reads, the protein at location 13133 an amino acid called Arginine (abbreviated ARG) was expected. Instead a stop codon was generated which is marked in this example with an asterisk (*).
The example above is a nonsense mutation.
First Method - Inspect your report
Many times the genetic report will state the mutation type in plain English. You should scan it to find your exact variant. You should be looking for one of this terms:
Nonsense, Missense, Splice Site, Frame shift or in-frame operation.
Still in many reports the exact mutation is not specified. If this is the case move on to the next paragraph.
Second Method - Search it online
Many times when taking genetic testing, you are asked in one of the papers if you are willing to contribute your report anonymously to science. This data finds its ways to public records accessible online free of charge. We will use one of those databases to locate the mutation type.
Follow this steps:
1. Log on to a site called Genecards
2. In the search box type the gene name and hit enter
3. Select the gene from the results list
4. At the upper part of the screen you have the ability to "jump into section", select Variants
5. This section contains the list of mutations in the gene, but the list is compacted, click the See All to open the full list.
6. Sort the list by click on the third column ( the name of this column changes based on the chromosome where the gene is located)
7. Locate your variant in the list (since it is sorted this should be so hard
8. The last column specifies the mutation type
If you can't locate it in the list
There is a possibility you won't find it in the list. The database doesn't contain all known mutations, only those that have been contributed to science. If you can't find your mutation in the list, it is best to ask a genetic consultant
Why should you care ?
Different mutations have different therapeutic strategies. For nonsense mutations, there is a unique threptic approach that is gene agnostic. You can learn about it a bit in our article "what is a nonsense mutation". Splice site mutations can be suitable for a technology known as antisense oligonucleotides. There are families that used this technology to develop personalized drugs for their loved ones (FDA approved).
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease